J.-P. Concordet

Safety and efficacy study of CRISPR/Cas9 treatment of sickle cell disease in clinically relevant conditions highlights disease-specific response

This study evaluates the safety and efficacy of CRISPR/Cas9-mediated HbF reactivation in sickle cell disease by testing it in patient-derived HSPCs and shows it is effective but has off-target effects.

Direct delivery of Cas9 or base editor protein and guide RNA complex enables genome editing in the retina

This study delivers Cas9 or base editor RNP complexes directly to retinal cells, achieving gene editing in photoreceptors and RPE, but with toxicity at high concentrations.

Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation

This study shows that mitochondrial defects in desmin-mutated cardiomyocytes contribute to cardiomyopathy and can be reversed by transferring normal mitochondria.

Changes in social behaviour with alterations of MAPK3 and KCTD13/CUL3 pathways in two new outbred rat models for the 16p11.2 syndromes with autism spectrum disorders.

This paper creates two rat models with 16p11.2 CNVs to study social behavior and finds altered MAPK3 and CUL3 pathways with sexual dimorphism in phenotypes.

A fast Myh super enhancer dictates adult muscle fiber phenotype through competitive interactions with the fast Myh genes

Differential Requirements for the RAD51 Paralogs in Genome Repair and Maintenance in Human Cells

This study investigates the roles of RAD51 paralogs in DNA repair across different human cell types, finding essential differences in their functions and identifying potential implications for cancer therapy.

Identification of the master sex determining gene in Northern pike (Esox lucius) reveals restricted sex chromosome differentiation

The paper identifies and functionally validates an ancient duplicated anti-Mullerian hormone gene as the master sex determining gene in Northern pike, revealing limited sex chromosome differentiation.

HSF2 protects against proteotoxicity by maintaining cell-cell adhesion

This study shows HSF2 protects cells from proteotoxicity by maintaining cell-cell adhesion through regulation of cadherin genes.